Autosomal-dominant inheritance of congenital superior oblique palsy.

PURPOSE: A pedigree comprised of five affected members is presented to demonstrate the genetic transmission of congenital superior oblique palsy. METHODS: A 2-year-old boy referred for strabismus was found to have bilateral congenital superior oblique palsy. The authors subsequently performed a complete ophthalmologic examination on all available family members to determine the inheritance pattern. The diagnosis of congenital superior oblique palsy was based on results of prism cover testing, ductions, and the Bielschowsky head tilt test, in addition to a history of early onset of symptoms and absence of preceding head trauma. RESULTS: The father, paternal grandfather, and a brother of the 2-year-old boy were found to have bilateral congenital superior oblique palsy. Evaluation of the paternal aunt showed right congenital superior oblique palsy. Bilateral absence of the superior oblique tendon was noted at the time of surgery in the 2-year-old boy. CONCLUSION: The occurrence of genetic transmission by an autosomal-dominant mode should be considered in patients with congenital superior oblique palsy.

Results of a single lateral rectus resection for divergence and partial sixth nerve paralysis.

A single 5.5-millimeter to 8.0-millimeter lateral rectus resection eliminated diplopia in five of six adult patients with divergence paralysis and in all three patients with a sixth cranial nerve paresis. Preoperative distance esotropia ranged from 11 to 20 prism diopters in primary gaze. Prism therapy failed in seven of nine patients. Lateral incomitance was reduced in three patients with a mild limitation of abduction preoperatively, but was not induced in the six patients with divergence paralysis. Significant overcorrection of the near esodeviation did not occur. A single lateral rectus resection can effectively eliminate diplopia in selected patients with divergence and partial sixth nerve paralysis.

Optociliary veins and visual prognosis after central retinal vein occlusion.

The effect of acquired optociliary veins on visual acuity after ischemic central retinal vein occlusion in patients 45 years of age or older was assessed retrospectively. Fundus photographs and medical records of 21 patients, 45 years of age or older, with photographically documented central retinal vein occlusion and at least six-months follow-up were analyzed. Eleven of 21 patients developed acquired optociliary veins. Patients with acquired optociliary veins were more likely to experience stable or improved visual acuity (nine of 11 patients) than were patients without them (four of ten patients) over a mean follow-up period of 30 months (P = .049).

Sequential cranial computed tomography in infants with retinal hemorrhages.

Five whiplash-shaken infants presented initially with lethargy, vomiting, irritability, and intraocular hemorrhage and had sequential cranial computed tomography (CT). In three of the five infants, results of the initial CT scans of the head were either normal or demonstrated subtle abnormalities. However, significant subdural hemorrhages which were demonstrated by subdural aspiration developed subsequently in all three infants. Results of repeat CTs of the head showed progressive ventricular dilation and symmetrical bilateral fronto-parietal subdural hematomas. The retinal hemorrhages preceded both the clinical and radiologic recognition of subdural hematoma. Results of the initial head CT of the remaining two children showed intracerebral hemorrhages, cerebral edema and subsequently subdural hematoma. The finding of unexplained retinal hemorrhages in some infants, even though the initial CT head scan may show only minimal changes, warrants monitoring of the head circumference, fundus, and repeat head CT as indicated.

Corneal rupture following radial keratotomy in cats subjected to BB gun injury.

We performed this investigation to determine if radial keratotomy (RK) predisposes an eye to rupture when exposed to projectile trauma. Radial keratotomy was performed on 22 cat eyes; 17 eyes were used as controls. Incision depth was set at 90% by averaging ten corneal thickness readings by ultrasonic pachymetry of each cornea. An optical zone of 4.0 mm was used and eight incisions were made. Eight weeks after RK the cats were divided into three groups, subjected respectively to BB velocities of 148.5 ft/sec (N = 4), 190 ft/sec (N = 5), and 240 ft/sec (N = 13). In groups 1 and 2, all nine eyes had hyphemas and no eyes perforated. In group 3, four of 13 RK eyes had corneal rupture. All control eyes had hyphemas and none ruptured. The study suggests that RK can predispose to rupture eyes exposed to projectile trauma sufficient to produce hyphema.

Inflammatory response to viscoelastic materials.

Healon, Amvisc, or Viscoat was injected into the corneal stroma of 36 normal rabbit eyes. Twelve additional rabbit eyes were used as controls by performing a sham procedure. Twelve rabbits were euthanized at one day and the remainder seven days after injection. The eyes were enucleated and examined by light microscopy. No control eyes had detectable inflammation. Only Viscoat produced mild inflammation at seven days, but this was statistically significant only at p = 0.182. There appears to be little difference in the inflammatory response of these three viscoelastic substances.

Orbital apex syndrome.

A case is presented of a 16-year-old anticoagulated, immunocompromised male presenting with a blind, proptotic left eye, total ophthalmoplegia, and central retinal artery occlusion. Ophthalmic examination revealed other features of the orbital apex syndrome. Mucormycosis misdiagnosed as a traumatic orbital hemorrhage led to the patient's death. In this review, differential diagnosis of the orbital apex syndrome (loss of cranial nerves II, III, IV, ophthalmic division of V, and VI) is outlined, and features, diagnosis, and treatment of mucormycosis are discussed. Although mucormycosis is most commonly seen in diabetics, it should be considered in any immunocompromised patient presenting with the constellation of features of orbital apex syndrome.

Histopathology of triamcinolone in the subconjunctiva.

Triamcinolone acetonide (TA) was injected subconjunctivally in nine human eyes one week before trabeculectomy. A biopsy specimen of conjunctiva and subconjunctiva was obtained from the site of drug injection, as well as a site 6 mm from the injection at the time of trabeculectomy. The tissue was evaluated by electron microscopy. TA was similarly injected subconjunctivally in ten normal rabbit eyes. For control purposes, six eyes were injected with the vehicle. Five animals were euthanized at one and two weeks post-injection and subconjunctival biopsy specimens from the drug site, at the margin of the drug site, and 180 degrees away from the drug site were subsequently examined by light and electron microscopy. At the drug site in both humans and rabbits, the subconjunctival fibroblasts were necrotic, the collagen fibers were altered in appearance, and there was infiltration of macrophages. The control site was unremarkable. These local morphologic changes may explain, in part, the mechanism(s) of action of injected TA.

Pseudopapilledema and macrocephaly in a child.

A seven-year old female with primary megalencephaly and pseudopapilledema has been followed for over four consecutive years. Physical examinations of the patient and her family, funduscopic photography, and fluorescein angiography have failed to identify the etiology of her pseudopapilledema. Macrocephaly and pseudopapilledema have been seen in association in only one previous report to our knowledge. The importance of distinguishing pseudopapilledema from true papilledema in children with large heads is reviewed.

Orbital and childhood sarcoidosis.

Orbital infiltration, anterior uveitis, disc edema, choroiditis, erythema nodosum, and polyarticular arthritis due to sarcoidosis occurred in a five-year-old child who presented with unilateral proptosis. Diagnosis was enhanced by computerized tomography of the orbit, and confirmed by synovial biopsy findings. This patient's course illustrates the importance of thorough and frequent ocular examinations in childhood uveitis associated with systemic disease and demonstrates an unusual finding of orbital sarcoidosis. Childhood sarcoid arthritis may be misdiagnosed as juvenile rheumatoid arthritis. Familiarity with the ocular and systemic findings may lead to the correct diagnosis.

The effect of preoperative subconjunctival triamcinolone administration on glaucoma filtration. I. Trabeculectomy following subconjunctival triamcinolone.

Trabeculectomies were performed on 15 eyes because of uncontrolled glaucoma despite the maximum use of tolerated antiglaucoma medication. We considered all of these eyes to be at increased risk for episcleral cicatricial closure for one of the following reasons: neonatal glaucoma, a patient of age 40 years or less, previously failed glaucoma filtration surgery, or aphakia. A standard operation was performed except that triamcinolone acetonide (4 mg) was injected subconjunctivally at the intended trabeculectomy site one week before surgery in 12 eyes, the day of surgery in two eyes, and two days prior to surgery in one eye. During the follow-up period of six to 16 months, 14 of 15 eyes had an intraocular pressure (IOP) of 18 mm Hg or less. The average IOP for these 14 eyes was 12.4 +/- 4.6 (mean +/- 1 SD), and only three of the 14 required any antiglaucoma medication. One eye was a surgical failure. All eyes with controlled IOP had diffuse microcystic filtration blebs by slitlamp examination. The postoperative visual acuity was within one line of the preoperative level in all eyes, except for the one failure. The use of triamcinolone did not appear to add any additional risks to the surgical procedure or to the postoperative period.

Pediatric ocular sarcoidosis.

Sarcoidosis is an uncommon cause of childhood uveitis. However, the ophthalmologist familiar with the clinical features of childhood sarcoidosis can play a key role in the diagnosis and treatment of this disorder. Two subsets of pediatric sarcoidosis are identified. The 8-15 year age group has almost universal lung involvement, with the eye, skin, liver, and spleen involved in 30-40% of cases. Children 5 years of age and under are characterized by the triad of uveitis, arthropathy, and skin rash. The epidemiology, clinical features, diagnostic evaluation, and ocular management of pediatric sarcoidosis are reviewed. The clinical and laboratory findings that distinguish sarcoidosis from other causes of childhood uveitis are discussed.

Ophthalmoscopic findings in occult child abuse.

Two previously healthy infants initially presented with vomiting and lethargy. There was a history of whiplash shaken infant syndrome in one infant, but neither child had external or skeletal survey evidence of abuse. However, ophthalmoscopy revealed bilateral retinal hemorrhages, papilledema and vitreous hemorrhage. Subdural aspirations revealed occult hematomas. Both children required ventricular peritoneal shunts to control intracranial pressure. Ophthalmologists, pediatricians, and primary physicians should be aware of the possibility of child abuse in the differential of diagnosis of Terson's syndrome, especially in infants since this may be the only physical finding.

Dominant CHARGE association.

We had the opportunity to examine eight individuals in four generations of a family with dominant CHARGE association. In three generations there were five affected individuals. The 25-year old male proband had coloboma of the iris, retina and optic disc, mental retardation, hypogonadism, malformed ears, and mixed hearing loss. His 19-year old sister had colobomas of the retina, choroid, and disc, mental retardation and malformed ears. The mother of these two individuals had coloboma of the retina, choroid, and optic disc, dull mentality, and mixed hearing loss. The proband's maternal grandmother had peripapillary staphylomatous changes of the disc, mixed hearing loss, and malformed protruding ears. The proband's maternal uncle had mental retardation, hypogonadism, mixed hearing loss, protruding ears, but no colobomas. All of the affected individuals had a distinct configuration to the midface, including malar hypoplasia, prominent nasal columnella and a long nasal philtrum. The inheritance of the CHARGE association in this family would appear to be autosomal dominant. However, as the males have not reproduced, it is not possible to rule out X-linked dominant inheritance.

Descemet's membrane detachment by sodium hyaluronate.

The inadvertent injection of sodium hyaluronate (Healon) just anterior to Descemet's membrane during an extracapsular cataract extraction resulted in a corneal opacity. No extraordinary measures were taken to remove this substance. The opacity resolved over five months, with a final visual acuity of 20/25 and a reduction in specular microscopic cell density from 2,600 to 2,100/sq mm. Sodium hyaluronate was injected in an analogous manner into eight rabbit corneas. The eyes were enucleated, and histologic sections were examined 1, 5, 9, and 14 days later. Sodium hyaluronate injected just anterior to Descemet's membrane was found to incite an acute mild granulocytic response, which is followed by a macrophage invasion and ingestion of this substance. We recommend a conservative approach when the central portion of Descemet's membrane is detached by sodium hyaluronate during anterior segment surgery.